Linked Data
ClinVar Variation Id:
760249
ClinVar RCV Id:
RCV000938172
dbSNP Id:
rs766451194
ExAC:
5:59940684 G / A
gnomAD v2:
5-59940684-G-A
gnomAD v3:
5-60644857-G-A
gnomAD v4:
5-60644857-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60644857G>A , CM000667.2:g.60644857G>A | GRCh38 |
| NC_000005.9:g.59940684G>A , CM000667.1:g.59940684G>A | GRCh37 |
| NC_000005.8:g.59976441G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265036.10:c.597C>T MANE Select | ENSP00000265036.5:p.Gly199= | |
| ENST00000265036.9:c.597C>T | ENSP00000265036.5:p.Gly199= | |
| ENST00000453022.6:c.597C>T | ENSP00000389101.2:p.Gly199= | |
| ENST00000512078.5:c.*594C>T | ENSP00000427527.1:n.*594C>T | |
| NM_001145208.1:c.597C>T | NP_001138680.1:p.Gly199= | |
| NM_018369.2:c.597C>T | NP_060839.2:p.Gly199= | |
| XM_011543509.1:c.552C>T | XP_011541811.1:p.Gly184= | |
| XM_011543510.1:c.597C>T | XP_011541812.1:p.Gly199= | |
| XR_948274.1:n.638C>T | ||
| XM_011543509.2:c.552C>T | XP_011541811.1:p.Gly184= | |
| XM_011543510.3:c.597C>T | XP_011541812.1:p.Gly199= | |
| XM_017009629.2:c.597C>T | XP_016865118.1:p.Gly199= | |
| XR_948274.3:n.639C>T | ||
| NM_018369.3:c.597C>T MANE Select | NP_060839.2:p.Gly199= | |
| NM_001145208.2:c.597C>T | NP_001138680.1:p.Gly199= |